Nbn nibrin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nbnprovided by MGI
Official Full Name: nibrinprovided by MGI
Primary source: MGI:MGI:1351625
See related: Ensembl:ENSMUSG00000028224 AllianceGenome:MGI:1351625
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nbs1
Summary: Enables damaged DNA binding activity. Involved in blastocyst growth and isotype switching. Acts upstream of or within cell population proliferation; intracellular signal transduction; and neuromuscular process controlling balance. Located in PML body and replication fork. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; breast cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 7.5), CNS E11.5 (RPKM 7.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4; 4 A2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (15955388..15992589)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (15957587..15992589)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma.
Title: A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma.
NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Title: NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Nbs1-mediated DNA damage repair pathway regulates haematopoietic stem cell development and embryonic haematopoiesis.
Title: Nbs1-mediated DNA damage repair pathway regulates haematopoietic stem cell development and embryonic haematopoiesis.
NBS1 interacts with Notch signaling in neuronal homeostasis.
Title: NBS1 interacts with Notch signaling in neuronal homeostasis.
Nbn-Mre11 interaction is required for tumor suppression and genomic integrity.
Title: Nbn-Mre11 interaction is required for tumor suppression and genomic integrity.
Loss of Nbn expression is associated with premature hair loss.
Title: Epidermal Nbn deletion causes premature hair loss and a phenotype resembling psoriasiform dermatitis.
the essential role of Nbs1 is via its interaction with Mre11 and that most of the Nbs1 protein is dispensable for Mre11 complex functions and suggest that Mre11 and Rad50 directly activate ATM.
Title: The Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression.
Low NBS1 expression is associated with B-cell lymphomas.
Title: MRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress.
Phosphorylation status of NBS1 determines how dysfunctional telomeres are repaired.
Title: NBS1 Phosphorylation Status Dictates Repair Choice of Dysfunctional Telomeres.
findings show that NBS1 is crucial for macrophage function during normal aging
Title: NBS1 is required for macrophage homeostasis and functional activity in mice.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (11) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Nbn (e-PCR), detects polymorphism
- UniSTS:158747

RH126493 (e-PCR)
- UniSTS:163201

Nbn (e-PCR), detects polymorphism
- UniSTS:256687

Homology

Homologs of the Nbn gene: The Nbn gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 493 organisms have orthologs with human gene Nbn
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA double-strand break processing	NAS Non-traceable Author Statement more info	PubMed
involved_in DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in DNA duplex unwinding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA strand resection involved in replication fork processing	NAS Non-traceable Author Statement more info	PubMed
involved_in blastocyst growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in homologous recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in isotype switching	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in mitotic G2 DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	ISO Inferred from Sequence Orthology more info
involved_in mitotic G2/M transition checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in mitotic cell cycle checkpoint signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of telomere capping	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of viral entry into host cell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in t-circle formation	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via telomere trimming	ISO Inferred from Sequence Orthology more info
involved_in telomeric 3' overhang formation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BRCA1-C complex	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
part_of Mre11 complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of Mre11 complex	ISO Inferred from Sequence Orthology more info
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in PML body	ISO Inferred from Sequence Orthology more info
located_in chromosomal region	NAS Non-traceable Author Statement more info	PubMed
located_in chromosome	IEA Inferred from Electronic Annotation more info
colocalizes_with chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
located_in nuclear inclusion body	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: nibrin

Names: cell cycle regulatory protein p95; nijmegen breakage syndrome protein 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_013752.3 → NP_038780.3 nibrin

See identical proteins and their annotated locations for NP_038780.3

Status: VALIDATED

Source sequence(s)

BC013190, BC055061

Consensus CDS

CCDS17986.1

UniProtKB/Swiss-Prot

Q9R1X1, Q9R207

Related

ENSMUSP00000029879.9, ENSMUST00000029879.15

Conserved Domains (4) summary

cd00027
Location:114 → 182

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cd00060
Location:1 → 109

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

pfam08599
Location:681 → 743

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:217 → 325

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

15955388..15992589

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537970.4 → XP_006538033.1 nibrin isoform X4

See identical proteins and their annotated locations for XP_006538033.1

Conserved Domains (3) summary

pfam08599
Location:530 → 591

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:66 → 174

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

cl00038
Location:1 → 33

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
XM_006537971.3 → XP_006538034.1 nibrin isoform X4

See identical proteins and their annotated locations for XP_006538034.1

Conserved Domains (3) summary

pfam08599
Location:530 → 591

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:66 → 174

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

cl00038
Location:1 → 33

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
XM_030253593.2 → XP_030109453.1 nibrin isoform X3

Conserved Domains (3) summary

pfam08599
Location:530 → 590

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:66 → 174

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

cl00038
Location:1 → 33

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
XM_030253594.2 → XP_030109454.1 nibrin isoform X3

Conserved Domains (3) summary

pfam08599
Location:530 → 590

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:66 → 174

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein

cl00038
Location:1 → 33

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
XM_030253592.2 → XP_030109452.1 nibrin isoform X1

Conserved Domains (4) summary

cd00060
Location:1 → 109

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd17741
Location:111 → 184

BRCT_nibrin; BRCT domain of nibrin and similar proteins

pfam08599
Location:681 → 741

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:217 → 325

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
XM_036164174.1 → XP_036020067.1 nibrin isoform X2

Conserved Domains (3) summary

cd17741
Location:10 → 71

BRCT_nibrin; BRCT domain of nibrin and similar proteins

pfam08599
Location:568 → 628

Nbs1_C; DNA damage repair protein Nbs1

pfam16508
Location:104 → 212

NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein